Variant Results

or

or

Results for "BCORL1"

Variant Events: 12

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported

BCORL1

33_15au

chrX:
129173230-129173245

AGCGACACCATGAAGC

A

exonic

De novo

nonframeshift deletion

NM_021946
NM_001184772

c.4592_4606del
c.4814_4828del

p.1531_1536del
p.1605_1610del

-

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCORL1

SP0005848

chrX:
129173245-129173245

C

T

exonic

nonsynonymous SNV

NM_021946
NM_001184772

c.C4606T
c.C4828T

p.R1536C
p.R1610C

15.22

-

Zhou2022 GE

BCORL1

SP0053576

chrX:
129173130-129173130

G

A

exonic

synonymous SNV

NM_021946
NM_001184772

c.G4491A
c.G4713A

p.V1497V
p.V1571V

-

Zhou2022 GE

BCORL1

AU3398301

chrX:
129175276-129175283

GAGACAGA

GAGA

intronic

De novo

-

-

Yuen2017 G

BCORL1

12340.p1

chrX:
129149138-129149138

G

A

exonic

Mosaic, De novo

nonsynonymous SNV

NM_001184772
NM_021946

c.G2390A
c.G2390A

p.C797Y
p.C797Y

15.04

-

Dou2017 E
Iossifov2014 E
Ji2016 E
Kosmicki2017 E
Krupp2017 E
Satterstrom2020 E
Zhou2022 GE

BCORL1

SSC04635

chrX:
129149138-129149138

G

A

exonic

De novo

nonsynonymous SNV

NM_001184772
NM_021946

c.G2390A
c.G2390A

p.C797Y
p.C797Y

15.04

-

Trost2022 G

BCORL1

AU4468301

chrX:
129177753-129177761

ATATATATT

AT

intronic

De novo

-

-

Yuen2017 G

BCORL1

1-0367-003

chrX:
129175276-129175283

GAGACAGA

GAGA

intronic

De novo

-

-

Yuen2017 G

BCORL1

F10267-1

chrX:
129148372-129148372

G

A

exonic

De novo

nonsynonymous SNV

NM_001184772
NM_021946

c.G1624A
c.G1624A

p.D542N
p.D542N

8.176

-

Satterstrom2020 E
Trost2022 G
Zhou2022 GE

BCORL1

2-1375-003

chrX:
129150017-129150017

G

C

exonic

Inherited

nonsynonymous SNV

NM_001184772
NM_021946

c.G3269C
c.G3269C

p.R1090P
p.R1090P

17.45

Jiang2013 G

BCORL1

AU4015303

chrX:
129196477-129196480

TTCT

TT

intergenic

De novo

-

-

Yuen2017 G

BCORL1

SP0016671

chrX:
129149978-129149979

GG

TT

exonic

De novo

nonframeshift substitution

NM_001184772
NM_021946

c.3230_3231TT
c.3230_3231TT

N/A
N/A

-

-

Feliciano2019 E
Trost2022 G
Zhou2022 GE

Source Variant Information

, -

Source:

Paper alias:

No records found.

Paper Information

Title
Authors
Technology
Variant source
Cohorts
Design
URL
Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
Variant event count
Curation notes	View
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